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. 2014 Jul 10;4:5616. doi: 10.1038/srep05616

Figure 2. Whole exome sequencing and familial genomic tetra-overlapping for the identification of a novel genetic variant for multiple complex syndromes.

Figure 2

(A) Pedigree of the family. Black circles/squares are affected, white are unaffected. Arrow indicates the proband. 4 large circles (3 in red and 1 in blue) represent the 4 individuals underwent whole exome sequencing. Plus signs indicate Y1495 SCN5A mutation positive. Minus signs indicate mutation-negative. NA represents DNA samples were not available. (B) Overlapping filter strategy. Asterisks denotes remaining variants for further analysis that are present in 3 affected members (red circles) but not in the normal control (blue circle). (C) Sanger DNA sequencing chromatogram demonstrates the heterozygosity for a SCN5A mutation (p.Y1495X, c.4485C > A). (D) Schematic representation of the filter strategies employed in our study.